MITOMAP References for RNA Mutation T593C

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Index PMID Date Reference
1 22039503 2011 Zhang, A. M., Bandelt, H. J., Jia, X., Zhang, W., Li, S., Yu, D., Wang, D., Zhuang, X. Y., Zhang, Q., Yao, Y. G. (2011) Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A? PLoS One . 6 (10): e26511 .
2 22110754 2011 Zhang, A. M., Jia, X., Bi, R., Salas, A., Li, S., Xiao, X., Wang, P., Guo, X., Kong, Q. P., Zhang, Q., Yao, Y. G. (2011) Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients PLoS One . 6 (11): e27750 .
3 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
4 28579530 2017 Chen, X., Nie, Z., Wang, F., Wang, J., Liu, X. W., Zheng, J., Guo, Y. F., Guan, M. X. (2017) Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNA(Phe) gene Mitochondrion . 35 (): 111-118 .
5 33552719 2021 Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 .
6 34053002 2021 Shuai, J., Shi, J., Liang, Y., Ji, F., Gu, L., Yuan, Z. (2021) Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy Irish Journal of Medical Science ePub ahead of print, http://doi.org/10.1007/s11845-021-02656-6 (): .